500 babies now recruited to world-leading genetic study
Over 500 babies born at Imperial College Healthcare NHS Trust have now been registered to take part in a world-first NHS study that is aiming to screen up to 100,000 newborns across England for more than 200 rare genetic conditions.
Queen Charlotte’s Hospital was among the first NHS sites to open as part of the Generation Study, led by Genomics England in partnership with NHS England.
This pioneering study aims to identify genetic conditions such as Metachromatic leukodystrophy (MLD) in babies sooner and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.
Shortly after birth, participating babies have a small blood sample taken from the umbilical cord. This sample is used for whole genome sequencing which identifies treatable, rare conditions shortly after birth rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment much earlier.
Results are reviewed by NHS genomic scientists, with the aim of sharing with parents within 28 days if a condition is suspected or within a few months if no conditions are suspected.
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.
Kelly Brooks, research nurse, said: “The Generation Study gives families the opportunity to have their baby screened for over 200 treatable genetic conditions within the NHS. For comparison, the current NHS day five heel prick test screens for ten conditions, so this study provides a much broader and earlier insight into a baby’s health. Early detection can lead to faster treatment, improved outcomes, and peace of mind for families.”
Read our Q&A with the staff who are supporting the study at our Trust
Tell us a bit about the team.
We have a fantastic multidisciplinary team made up of clinical research practitioners, doctors, midwives, nurses and laboratory staff who collaborate across St Mary's and Queen Charlotte’s hospitals. The study is led locally by a consultant obstetrician and a senior research midwife who act as principal investigator’s (PI). We’ll soon be welcoming an associate PI to the team too. We couldn’t run the study without the incredible support of our clinical midwives across both sites, who collect the cord blood samples at delivery.
What does a typical day look like recruiting patients to the study?
We aim to offer the study to every pregnant person planning to deliver at Queen Charlotte’s or St Mary’s hospitals. This means reaching potential participants in many ways. Patients can self-refer via the Generation inbox, which we monitor constantly to arrange consent or sample pack collection appointments. We also follow up with texts and calls to reach parents at different stages of pregnancy.
Our team screens the antenatal wards daily to identify eligible patients and speak with them in person, explaining the study and answering any questions before birth. Each approach is personal, whether face-to-face or over the phone, to ensure families are fully informed and comfortable taking part.
Recruitment is just one part of the process. We also stay in touch with families throughout, acting as their point of contact, collecting and dispatching samples, taking heel prick samples when needed, and updating study databases.
How do you work collaboratively with midwives and maternity staff to identify and approach eligible families?
We work closely with antenatal and delivery teams to identify eligible families and ensure they’re approached at the right time. Clinical colleagues also play a key role in collecting cord blood samples once the baby is born.
Daily screening helps us flag eligible patients, and we liaise directly with midwives to coordinate when and how to approach them. We use Generation stickers and add research notes to patients’ electronic records to help notify midwives that a patient is enrolled in the study and a cord blood sample will need to be collected at birth.
We also maintain open communication with midwifery teams, sharing feedback and insights to continuously improve recruitment and sample collection.
This partnership ensures families are supported throughout their participation and helps embed research smoothly into routine maternity care.
How do you explain the study to parents?
Everyone on the team receives comprehensive training from Genomics England, giving us the tools and confidence to talk with parents. Families receive a clear, accessible information booklet, available in several languages, with QR codes linking to videos and websites that explain the study in more detail. All materials are written in plain language and reviewed carefully to ensure they’re easy to understand.
We also make use of Genomics England’s short videos, which visually explain how the study works and what participation involves.
As a team, we have many years of patient contact and communication experience which we use every time we approach patients to tailor our conversations, ensure understanding and gain informed consent from families.
What are the most common questions or concerns parents raise?
Questions and concerns vary so we always give parents the time and space to raise what matters to them. Our approach is person specific which is integral to delivering good ethical research.
The most common concern we hear relates to data security and confidentiality, particularly as the study follows children until age 16. Understandably, families want to know how their data will be stored and used in the long term.
We reassure them that the study has undergone a thorough ethical review. All data is anonymised, held securely, and only accessible to authorised researchers.
Genomics England has also published a detailed FAQ resource for study teams, which helps us answer families’ questions quickly and consistently.
What does participation look like for families?
Families can join the study at any point during pregnancy, as long as they meet the eligibility criteria. Once they’ve received and read the information booklet, we complete the consent process together either in person or over the phone, which usually takes around 20 minutes.
A sampling kit is then attached to the mother’s blue notes, and Generation stickers are added to the outside of these notes. A note is also entered in Cerner, ensuring delivery midwives know to collect the cord blood sample after birth. If a cord sample is missed, the team can offer to take a heel prick sample with the family’s agreement.
Once samples are collected, we register them against the patient’s record and then dispatch them to the genetics service lab using a regular courier service provided by the study.
Families typically receive results around three to four weeks later. Negative results are shared by email or letter, and positive results are shared by a Genomics Specialist by phone – families who receive a positive result will then follow an NHS pathway to obtain more tests and a possible diagnosis of a genetic condition.
Once enrolled, families don’t need to do anything further. The same genetic sample is used for reference as the study follows each child until age 16. Families can also withdraw from the study at any time with no questions asked or impact on their standard of care.
How do you think this study will change the way we care for newborns in the future?
We’ve offered a successful and long-standing screening programme for newborns for many years now within the NHS. Our hope is that the study will become part of the standard of care for newborns and we’ll be able to alert families to a wider range of potential conditions much earlier in life – which will enable earlier treatment and improve care in the future.
